Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Shahnaz H. Ibrahim"'
Autor:
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier
Externí odkaz:
https://doaj.org/article/78105606e072432f9749da08dbbd20b7
Autor:
Shahnaz H. Ibrahim, Hira Farooq
Publikováno v:
Frontiers in Nutrition, Vol 10 (2023)
IntroductionSub-acute sclerosing panencephalitis (SSPE) is a chronic, progressive neurodegenerative disorder, commonly seen in measles-endemic countries leading to progressive neuronal loss and death. Currently, there is no proven cure for this devas
Externí odkaz:
https://doaj.org/article/9ac1cdd86fa74dc49911008c3af2d73a
Autor:
Kiran Hilal, Kumail Khandwala, Nida Sajjad, Raima Kaleemi, Amyn A. Malik, Shazia Mohsin, Shahnaz H. Ibrahim
Publikováno v:
Pediatric radiology. 52(13)
Posterior reversible encephalopathy syndrome (PRES) is relatively uncommon in paediatric patients; however, its pathophysiology remains obscure.The aims of this study were to find an association or correlation between (1) blood pressures and (2) imag
Autor:
Shahnaz H, Ibrahim
Publikováno v:
JPMA. The Journal of the Pakistan Medical Association. 56(11)
Neonatal Cerebrovenous sinus thrombosis(CVST) is extremely rare, however it is a devastating condition and one needs to be aware of this condition to diagnose it. The risk factors for CVST are still not properly understood. The largest registry for s
Publikováno v:
Journal of child neurology. 17(3)
Dysarthria-clumsy hand stroke syndrome has been described frequently in adults but not in children. We report a 15-year-old right-handed boy with sudden onset of dysarthria, dysphagia, right facial weakness, and mild right-hand clumsiness. Computed t
Autor:
Kulsoom S; Dr. Shazia Kulsoom, MBBS, FCPS, Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Ibrahim SH; Dr. Shahnaz H Ibrahim, Professor of Pediatrics and Pediatric Neurologist, Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Jafri SK; Dr. Sidra Kaleem Jafri, MBBS, FCPS., Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Moorani KN; Dr. Khemchand N Moorani, Professor of Pediatrics and Pediatric Nephrologist, NICH. Department of Pediatric Medicine Unit III, National Institute of Child Health, Karachi, Pakistan., Anjum M; Dr. Misbah Anjum, MBBS, FCPS. Department of Pediatric Medicine Unit III, National Institute of Child Health, Karachi, Pakistan.
Publikováno v:
Pakistan journal of medical sciences [Pak J Med Sci] 2018 Nov-Dec; Vol. 34 (6), pp. 1424-1428.